ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.895T>A (p.Leu299Met) (rs199473087)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243540 SCV000319871 likely benign Cardiovascular phenotype 2017-12-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058859 SCV000090379 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:19841300;PMID:20129283).
GeneDx RCV000417399 SCV000171548 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000231147 SCV000291840 likely benign Brugada syndrome 2017-11-16 criteria provided, single submitter clinical testing

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